Product Details

SNP ID
rs147286834
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:88899492 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCAGGATGGGCGTCTCAAACAAG[A/T]TCTTCTTGTGGGAGTGGTTGTCCCA
Phenotype
MIM: 602281
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
HAPLN3 PubMed Links

Gene Details

Gene
HAPLN3
Gene Name
hyaluronan and proteoglycan link protein 3
There are no transcripts associated with this gene.

Gene
MFGE8
Gene Name
milk fat globule-EGF factor 8 protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001114614.2 1217 Missense Mutation AAC,ATC N304I NP_001108086.1
NM_001310319.1 1217 Missense Mutation AAC,ATC N312I NP_001297248.1
NM_001310320.1 1217 Missense Mutation AAC,ATC N348I NP_001297249.1
NM_001310321.1 1217 Missense Mutation AAC,ATC N244I NP_001297250.1
NM_005928.3 1217 Missense Mutation AAC,ATC N356I NP_005919.2
XM_017022206.1 1217 Intron XP_016877695.1

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